{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:48:30Z","timestamp":1789728510532,"version":"4.0.1"},"reference-count":0,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2000,6,1]],"date-time":"2000-06-01T00:00:00Z","timestamp":959817600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2000,6]]},"DOI":"10.1038\/sj.ejhg.5200483","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T20:46:30Z","timestamp":1032295590000},"page":"464-467","source":"Crossref","is-referenced-by-count":71,"title":["A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness\u2013dystonia\u2013optic atrophy syndrome"],"prefix":"10.1038","volume":"8","author":[{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben CJ","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fons JM","family":"Gabreels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willy O","family":"Renier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke Van","family":"Ghelue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2000,6,21]]},"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5200483.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200483","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5200483.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:25:05Z","timestamp":1684373105000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200483"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,6]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2000,6]]}},"alternative-id":["BF5200483"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200483","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,6]]}}}